Reading between the Lines: Direct-to-Consumer Advertising of Genetic Testing

Abstract

A case study in the kinds of problems to expect from this increasingly popular marketing tactic.

On a recent Friday evening, we had the good fortune to find ourselves at a performance of Margaret Edson’s Tony Award-winning play W;t (pronounced “wit”). The play lived up to its accolades. In an Oncology Unit of an unnamed research hospital, Vivian Bearing, an academician and scholar of John Donne’s poetry, has become a research subject as she lives out her final days with stage-IV ovarian cancer. We left the theater in tears, chilled by the stark depiction of metastatic cancer’s pain and the ability of a clinical trial to detract from a dying woman’s humanity.

Thumbing through the playbill in the minutes before the play began, however, we stopped at a full-page advertisement taken out by a biotechnology company for its commercial BRCA1 and BRCA2 genetic test. Our eyes were drawn first to the head-and-shoulders photograph of a woman holding her hand across her chest, the left side of her woeful countenance in shadow. She is worried about recurrent breast cancer, if the text around her picture is any indication. Yet the proper genetic test, we also learn, could dispel her fear and provide hope. That the advertisement was placed by a for-profit biotechnology company is indicated only with a subtle reference to the company’s name within its website address, printed at the bottom of the page.

The advertisement is problematic on three counts: it is manipulative, it is misleading, and it is misguiding. It is manipulative because it targets a vulnerable audience, there to witness Dr. Bearing’s isolated and vividly painful death from cancer. With the dread of cancer hanging in the air, readers will be easily beguiled by the advertisement’s prophetic headline, “The only thing worse than hearing you have cancer is hearing it twice” (with the words “hearing,” “cancer,” “twice” in bold and enlarged lettering).

The advertisement is misleading because it promotes a product with incomplete and at times incorrect information. Its central claim is the familiar mantra that “knowledge is power.” But information must be both accurate and pertinent to be empowering. This advertisement is not tailored, as it ought to be, to the small number of women who fall within the high-risk categories for BRCA1- or BRCA2-related cancer. Nor does it recognize that test results often lack certainty and that prevention options are of debatable utility. Nor does it appropriately qualify its claims about the availability of legal protections against health insurance discrimination for women who undergo testing.

The advertisement misguides women by suggesting that they contact the company directly about its BRCA1/2 genetic test rather than talk to their health care providers about genetic testing, their personal risk of breast cancer, and the potential usefulness of the test.

We are entering an era in which ever more genetic tests will be integrated into clinical practice. We can expect a concomitant increase in direct-to-consumer marketing for these tests. This advertisement—one of the first, as far as we know, to directly target potential consumers of genetic testing—provides an example of how the value of genetic tests can be misrepresented. It also provides an example of what we need to be on guard against.

Overstatement and Misrepresentation

The advertisement opens with the suggestion that women can and should want to learn about their risk for breast cancer:

If you could discover your risk for a second breast cancer or for ovarian cancer, would you? Chances are, you would . . . Such is the promise of [this test]. It reads your genetic code to determine whether you possess the altered . . . genes that dramatically increase your risk of breast and ovarian cancer. Knowing your family history is neither enough, nor is it always accurate. [This test] is.”

This way of framing BRCA1/2 testing is overly broad, since it is only smaller groups of women for whom BRCA1/2 mutations may be of concern. As a result, the advertisement implies that many more women could use this test. to learn their risk for second cancers than research has demonstrated actually can. While studies have shown that women who have or have had breast cancer and carry a BRCA1 or BRCA2 mutation are at increased risk for developing second cancers,¹ it is the penetrance of these mutations that determines the magnitude of the risks. Affected women with a strong family history of breast cancer are more likely to have highly penetrant mutations. The risk of a second, contralateral breast cancer among affected women with highly penetrant mutations is approximately 60 percent by age 60, and their risk of ovarian cancer is about 40 percent by age 60.² Women with breast cancer and low-penetrance mutations of BRCA1/2 have estimated cumulative risks of 24 percent for contralateral breast cancer³ and 6 percent for ovarian cancer.⁴

These risks for second cancers seem less impressive considering that only a small proportion of breast cancers are associated with BRCA1/2 mutations. Epidemiological predictions estimate that only 7 percent of all cases of breast cancer are due to inherited mutations,⁵ not all of which may be linked to BRCA1/2 mutations. ⁶ BRCA-associated breast cancer is most prevalent among individuals who have multiple affected family members,⁷ particularly if these cases were premenopausal or bilateral or at an early age of onset.⁸

The advertisement claims that the test can “dispel fear,” as if it could eliminate concerns about a second breast cancer or ovarian cancer, but given the uncertainties surrounding genetic testing for breast and ovarian cancer, the claim is another overstatement. Women with negative test results from the BRCA1/2 genetic test might possess an unknown genetic susceptibility for breast and ovarian cancer in genes other than BRCA1 and BRCA2.⁹ If so, a negative test result would provide false reassurance that they have no hereditary risks for breast and ovarian cancer. Further, women who receive negative test results can still develop sporadic breast cancer. A woman with early onset breast cancer who tests negative for BRCA mutations still faces an approximate 10 percent lifetime risk for contralateral breast cancer and 2 percent risk for ovarian cancer.¹⁰

Can the test “provide hope,” as it claims—presumably by providing clear guidance for follow-up to a positive test result? In fact, the optimal treatment of women with hereditary breast cancer remains undefined,¹¹ although tamoxifen therapy and prophylactic contralateral mastectomy (PCM) or prophylactic oophorerectomy (PO) are commonly discussed approaches to preventing the development of a second cancer. Preliminary data suggest that these preventive strategies may reduce the risk of second cancers,¹² but cases have been reported of second cancers developing after these interventions.¹³

The advertisement also asserts that “the law forbids health insurance discrimination.” Legislation to protect individuals from health insurance discrimination on the basis of a medical condition varies greatly from state to state; the District of Columbia, where we came across this advertisement, lacks statutory regulations prohibiting genetic discrimination.¹⁴ At the federal level, the Health Insurance Portability and Accountability Act (HIPAA) provides protection against a narrowly defined notion of genetic discrimination,¹⁵ but it does not protect individuals from often insurmountable increases in their insurance premiums based on medical information, nor does it apply to individuals who are not insured through an employer. The national health informational privacy regulations recently promulgated by the U.S. Department of Health and Human Services, as authorized by HIPAA, require patient authorization for disclosure of identifiable medical information, but they do not prevent health insurance companies from requesting and using such information to make converage decisions.¹⁶

Omission

By not stating that women ought to consult a health care provider, the advertisement encourages women to manage their own health care with information from the BRCA1/2 genetic test. It is indeed appropriate for women to take charge of their own health, but it is also widely held that the complex nature of any probabilistic genetic information requires the involvement of health care professionals to provide information and counseling. Genetic counseling can facilitate decisionmaking by educating women about risks and helping them understand and weigh the potential consequences of alternative choices concerning BRCA1/2 testing. ¹⁷ A physician who has an ongoing relationship with a woman and who is familiar with her medical history will be better able to discuss the relevance of genetic testing within the context of her individualized cancer risks. Oncologists and primary care providers should be consulted for discussions about screening, chemoprevention, prophylactic surgery, and other preventive options.¹⁸

Direct-to-consumer promotions for pharmaceutical products, which are analogous to the advertisement considered here, regularly include a suggestion that consumers discuss the product with their personal physician, consistent with American Medical Association guidelines.¹⁹ Even with such language in place, critics object that this kind of advertising manipulates the public and undermines the physician’s role.²⁰ These concerns would certainly be magnified if the language were absent.

False Hopes

The triumph of W;t occurs when Dr. Bearing realizes that she cannot accept the information about her “treatment” as confidently presented to her by the physician-investigators. Rather, she recognizes the need to employ those analytic skills that had served her so well as an academician to “read between the line-s.” The audience is keenly aware that if Dr. Bearing had not figured this out, she would have continued to fight a losing battle against her cancer, led on by false hopes of a cure. In being more than a passive recipient of information, Dr. Bearing empowers herself by navigating through misleading verbiage and taking charge of her own life and death decisions. How ironic and unfortunate that an advertisement distributed at the play, and concerning the risks of the very illness that afflicted Dr. Bearing, requires her unusually sophisticated analytic skills.